Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus. (Q33674727)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7815416%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7815416%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

main subject

Hirschsprung's disease

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7815416%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Anastella Pelet

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7815416%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

author name string

P Edery

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7815416%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

L M Mulligan

3

1 reference

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26 October 2019

T Attié

5

1 reference

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26 October 2019

E Dow

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7815416%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

D Bonneau

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7815416%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

A David

8

1 reference

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26 October 2019

W Flintoff

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7815416%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

D Jan

10

1 reference

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26 October 2019

language of work or name

English

0 references

publication date

1 August 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7815416%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

26 October 2019

published in

1 reference

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26 October 2019

volume

31

1 reference

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26 October 2019

issue

8

1 reference

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26 October 2019

page(s)

602-606

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7815416%20AND%20SRC:MED&resulttype=core&format=json

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

26 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

Structural analysis of the human ret proto-oncogene using exon trapping.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

A 1.5-megabase yeast artificial chromosome contig from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

Total colonic aganglionosis (with or without ileal involvement): a review of 27 cases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

ret transforming gene encodes a fusion protein homologous to tyrosine kinases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

A genetic study of Hirschsprung disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

Specific expression of the ret proto-oncogene in human neuroblastoma cell lines

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

28 July 2018

Aganglionosis in rodents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

A second-generation linkage map of the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

Adult-Onset Hirschsprung's Disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

Strategies for multilocus linkage analysis in humans

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

Easy calculations of lod scores and genetic risks on small computers

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

The association of Waardenburg syndrome and Hirschsprung megacolon

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050020

Hirschsprung's disease: an appraisal of histochemically demonstrated acetylcholinesterase activity in suction rectal biopsy specimens as an aid to diagnosis

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7815416

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Three-generation transmission of Hirschsprung's disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7815416

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MONGOLISM ASSOCIATED WITH HIRSCHSPRUNG'S DISEASE

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7815416

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.31.8.602

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7815416%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7815416%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference